Dirk J. Lefeber

This study presents a one-step protocol to differentiate hiPSCs into functional astrocytes, enabling co-culture with neurons to support network development.

The paper identifies major sources of variability in iPSC-derived neurons and shows how correcting these improves disease signature detection.

This study shows that targeting AASS in astrocytes reduces neurotoxicity and improves mitochondrial function in a model of pyridoxine-dependent epilepsy.

The paper validates potential biomarkers for sporadic cerebral amyloid angiopathy in human CSF, finding no significant differences in CTSB and CTSS levels but a decrease in HEXA activity.

This study investigates OGT-CDG using stem cells, finding disrupted O-GlcNAc homeostasis and morphology during neuroectoderm differentiation but preserved stemness and differentiation potential.

The paper develops a plasma N-glycoproteomics method to identify high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities in genetic diseases.

The paper introduces GlycoPaSER, a real-time glycopeptide identification tool that decomposes spectra and uses specialized algorithms for real-time analysis, matching performance with existing software.

The paper identifies a bipartite sialylation pathway in Drosophila where glia and neurons perform distinct roles in regulating neural transmission and stress tolerance.

This study identifies a congenital disorder of glycosylation caused by a missense variant in the second starting methionine of syntaxin-5, leading to loss of the short isoform and multisystem disease.

The paper investigates the additive effect of genetic risk variants for Parkinson's disease and finds an unexpected rescue effect on neuronal function and survival in zebrafish with combined GCase and ASM deficiency.